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Congenital sucrase-isomaltase deficiency
rareA disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.
- Identifiers
- MONDO:0009114 OMIM:222900Orphanet:35122
- Causal genes
- SI
- Part of
- Disorder of carbohydrate transmembrane transport and absorptionIntestinal disaccharidase deficiency
- Also known as
- congenital sucrose intolerance · congenital sucrose-isomaltase malabsorption · CSID · disaccharide intolerance · disaccharide intolerance, 1
Subtypes
Disease
- Congenital sucrase-isomaltase deficiency with minimal starch tolerance MONDO:0017619
- Congenital sucrase-isomaltase deficiency with starch and lactose intolerance MONDO:0017621
- Congenital sucrase-isomaltase deficiency with starch intolerance MONDO:0017618
- Congenital sucrase-isomaltase deficiency without starch intolerance MONDO:0017620
- Congenital sucrase-isomaltase deficiency without sucrose intolerance MONDO:0017622
- Global disaccharide intolerance MONDO:0023250
Projects
Including projects on subtypes.
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